What guidelines exist for integrating genomic information into the management of common chronic diseases?

Currently, UK guidelines for integrating genomic information into the management of common chronic diseases primarily focus on familial breast cancer as a model for genomic integration in clinical care. The National Institute for Health and Care Excellence (NICE) guideline CG164 outlines a comprehensive approach to using genetic information in managing breast cancer risk, which can serve as a framework for other chronic diseases.

Key elements include:

• Referral to specialist genetic services when a high-risk gene mutation (e.g., BRCA1, BRCA2, TP53) is identified or suspected based on family history.
• Provision of pre-test genetic counselling, ideally in two sessions, by trained healthcare professionals to discuss the implications, benefits, and limitations of genetic testing.
• Genetic testing strategies that prioritize testing affected family members first to identify mutations before testing unaffected relatives.
• Use of multidisciplinary teams in secondary care to manage patients with genetic risks, including access to surveillance programs, risk-reducing surgery, psychological support, and clinical trials.
• Surveillance recommendations tailored to genetic risk levels, such as annual mammographic screening for women with moderate to high risk or known mutations.
• Support mechanisms for primary care professionals, including decision-support systems, educational materials, and designated secondary care contacts to facilitate appropriate referral and management.

While these guidelines are specific to familial breast cancer, they exemplify the principles of integrating genomic information into chronic disease management: risk stratification based on genetic data, informed consent and counselling, multidisciplinary care, and tailored surveillance or intervention strategies. Similar frameworks are likely to be adapted for other chronic diseases as genomic medicine advances.

In summary, the existing UK guidelines emphasize a structured, multidisciplinary, and patient-centred approach to incorporating genomic information into chronic disease management, with familial breast cancer serving as the primary example to date ¹.